CT47C1

Gene

cancer/testis antigen family 47 member C1, the group of CT antigen family 47

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

NM_001396132.1

Inheritance

—

ClinVar variants

—

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:119,072,993-119,076,765

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~3.8 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CT47C1 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001396132.1RefSeqNP_001383061.12MANE Select
ENST00000620151.4EnsemblENSP00000488984.12MANE Select
ENST00001100033.1EnsemblENSP00000769839.12Standard
ENST00001133131.1EnsemblENSP00000814876.12Standard
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.